title: Leigh syndrome with Fukuyama congenital muscular dystrophy: a case report.
abstract: We report the first case of Leigh syndrome (LS) with Fukuyama congenital muscular dystrophy (FCMD). A neonate suffered from lactic acidosis and subsequently presented with poor feeding, muscle weakness, hypotonia, cardiopulmonary dysfunction, and hydrocephalus. He died at 17 months. The findings of brain magnetic resonance imaging indicated some specific features of both LS and FCMD, and FCMD gene mutation was detected. Decreased mitochondrial respiratory complex I and II activity was noted. Mitochondrial DNA sequencing showed no pathogenic mutation. A case with complex I+II deficiency has rarely been reported, suggesting a nuclear gene mutation.
authors.affiliation: Department of Pediatrics and Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Japan; Department of Pediatrics, Osaka University Graduate School of Medicine, Japan. Electronic address: hkondo@ped.med.osaka-u.ac.jp.
authors.forename: Hidehito
authors.initials: H
authors.lastname: Kondo
authors.affiliation: Department of Pediatrics and Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Tanda
authors.affiliation: Department of Pediatrics and Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Japan.
authors.forename: Chihiro
authors.initials: C
authors.lastname: Tabata
authors.affiliation: Department of Pediatrics and Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Japan.
authors.forename: Kohei
authors.initials: K
authors.lastname: Hayashi
authors.affiliation: Department of Pediatrics and Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Japan.
authors.forename: Minako
authors.initials: M
authors.lastname: Kihara
authors.affiliation: Department of Pediatrics and Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Japan.
authors.forename: Zenro
authors.initials: Z
authors.lastname: Kizaki
authors.affiliation: Division of Pediatrics, Kobe University Graduate School of Medicine, Japan.
authors.forename: Mariko
authors.initials: M
authors.lastname: Taniguchi-Ikeda
authors.affiliation: Department of Pediatrics, Jichi Medical University, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Mori
authors.affiliation: Department of Metabolism, Chiba Children's Hospital, Japan.
authors.forename: Kei
authors.initials: K
authors.lastname: Murayama
authors.affiliation: Department of Pediatrics, Saitama Medical University Hospital, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Ohtake
mesh_terms: D001921:Brain / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007888:Leigh Disease / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D058494:Walker-Warburg Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology
keywords: Complex I+II deficiency; FCMD; Leigh syndrome; Mitochondria